Ralph and his family are helping to raise awareness of children’s genetic conditions through the annual Jeans for Genes charity week.
Ralph is now 3 years old and was born in Northampton General Hospital in March 2023.
Parents Bernice and Ryan recall diagnoses
“At our 20-week scan, we were told that the baby’s head was measuring on the large side and the sonographer left the room. As this was my first pregnancy I don’t think I realised at the time that this was not ‘normal’, however Ryan did and felt instantly concerned. We were asked to wait around for an additional scan and appointment. This led to further scans, and it became quite a worrying and uncertain time. We did not know what this meant or the severity of it at the time. We were given an urgent appointment at John Radcliffe Hospital in Oxford where we saw a specialist a few days later. We were advised that the baby had Ventriculomegaly however it was not at the more severe end. We were sent back to Northampton to continue to be monitored closely.
“As my pregnancy continued (so did the sickness), my midwife explained that the baby was large and likely to be born a ‘big baby’. Due to this, and being consultant led, it was decided that I would have an elective caesarean. Paediatricians were in the theatre ready to check the baby over as soon as he arrived. The midwife was correct and Ralph was born 9lb 2oz in March 2023 at 38 weeks.
“Ralph’s initial newborn tests were all good and we were discharged home; it was noted that his head was on the 99th percentile at birth. We were seen at home by the midwives, followed by the health visitor. We were incredibly lucky with our health visitor, and she recognised instantly that Ralph’s head was growing significantly, day by day. Our health visitor began coming out to us twice a week, every week for the first six months. She referred us back to the paediatrician to monitor his head growth which was being recorded twice a week.
“Ralph’s paediatrician ordered an MRI scan for him when he was four months old. The MRI showed that he had ‘benign extra axil fluid’. Ralph’s head continued to grow, and he was being monitored closely for hydrocephalus. Ralph then had several ultrasound scans on his head, followed by another MRI scan when he was 8 months old. The second MRI was able to rule out hydrocephalus. By this time Ralph was 8 months old and not hitting his developmental milestones. It took him a very long time to be able to hold his head up (due to the size and weight of it), to roll and to crawl. Ralph began physiotherapy to help with these areas at the age of 5 months old.
“Ralph continued to be heavily monitored by his health visitor and paediatricians during his first year. Due to his head size increasing much faster than the rest of his body was growing, his paediatrician requested genetic testing. We, of course, agreed as we wanted to find out if there was anything that we could learn about and help with. The genetic testing was done in February 2024 before Ralph turned one in March, it felt like the longest wait in the world, but we knew it would take some time. Fast forward to August 2024 and I received a phone call from the paediatrician explaining that the tests had come back and show that Ralph has PTEN Hamartoma Tumour syndrome.
“Ralph’s paediatrician was extremely honest with us and explained that he had never heard of it either and was sharing some of the key findings with us that he had himself just read. He gave us some wonderful advice but most importantly suggested that we find out as much information as we can. He said that when we are ready, we should join groups, research doctors and learn as much as you possibly can to advocate for Ralph in a world where conditions like PTEN are widely unknown.
“We took his advice, spent some time trying to get our heads around the fact that this is now very real, scary and unknown but the best thing we could do was to educate ourselves and the people around us for Ralph. A little time had passed, and we were both tested to see if we carry the gene mutation. Ralph’s paediatrician phoned us after almost two months of waiting to let us know that neither of us carry the gene mutation and that Ralph’s mutation is not inherited, it is de novo meaning that we did not pass it on to him.
“Ralph continued to develop at his own pace, he started nursery, continued physiotherapy, started swimming and was thriving in many areas. Fast forward to February 2025, Ralph was almost two. We had noticed that his breathing and snoring at night was getting far worse. He has always snored (loudly) since birth, so it was not anything new to us, however the way he was breathing, sleeping with his mouth wide open and snoring became more of a concern. One night we noticed that he was struggling more and we called 111. They sent paramedics to us which explained it looked like ‘obstructive sleep apnoea’. We monitored this very carefully, every night, splitting the night into shifts so that we could watch him as we were so concerned. We got back in touch with Ralph’s paediatrician who referred us to Leicester hospital to see ENT.
“During this waiting period, Ralph became unwell with what we thought at the time was a common cold. He was back and forth to the doctor’s surgery almost every week. We would phone 111 most weeks and he was being prescribed antibiotics for various infections including ear, throat and chest. He would experience frequent sickness which we always felt happened when he was becoming unwell with a cold /cough. This began to escalate and intensify, and his paediatrician gave him long term open ward access to our local hospital. Ralph seemed to be picking up a new cold every week, which is very common for toddlers in nursery, however he was not recovering from them in the way it would be expected. He would have recurring high fevers, persistent coughs and extreme fatigue. February came, what we thought was just a runny nose turned into a chesty cough within hours which impacted his breathing significantly. Ralph was admitted to hospital for a five-night stay where he needed some light oxygen support and antibiotics. Unfortunately, this was the first of many hospital stays.
“After the initial stay in February, Ralph returned to hospital 17 times throughout 2025. Each time with very similar symptoms. His hospital stays ranged from 5 nights to 15 days. Each time requiring chest x-rays, antibiotics and high-level oxygen support. He received antibiotics for extended periods, sometimes two weeks, and even a course of antibiotics for six weeks along with a period of isolation. Ralph was referred to an immunologist in May of 2025 with the thought that he was suffering from immunodeficiency as it became a concern that any slight cough or cold he picked up would quickly deteriorate and leave him needing significant support. Immunologists at LRI were able to take a variety of blood tests to test his antibodies and to look at his immune system. They were also able to find out if his vaccinations as a baby were successful or not and if he needed additional vaccines.
“The immunologist prescribed Ralph with long term antibiotics to take three times per week on a Monday, Wednesday and Friday to help to keep Ralph as well as possible. In the meantime, Ralph has now been referred to a respiratory specialist at Leicester Royal Infirmary where he has been undergoing further tests and support. There is research that suggests immune and respiratory problems are becoming more evident with patients with PHTS.
“We know that we are incredibly lucky to be under the care of physiotherapy, orthotics, ophthalmology specialists, ENT specialists, immunologists, urology specialists, respiratory consultants and local paediatricians and are so grateful for the work they are doing with Ralph. We constantly advocate for Ralph, chase appointments, explain his symptoms, follow research and push for appointments. We know that this is the start of Ralph’s journey, but he is such a wonderfully happy and smiley boy who absolutely loves life.
“Finding the PTEN UK and Ireland Patient Group truly has changed our lives in so many ways. We are so supported by the entire community that no question is a silly question. The resources and knowledge that we have been able to access via PTENUKI has shaped how we support Ralph and understanding this condition. Due to the complexity of Ralph’s condition and the amount of hospital support and appointments he has had, I have had to take a break from my career as a primary school teacher to focus on caring for and supporting Ralph. As a family this diagnosis has changed everything but with the help and support of the PTENUKI community we know that we are not alone. We are so grateful for the work Jeans for Genes do in helping to fund the work PTENUKI as we rely so much on their support.”
Jeans for Genes Day aims to change the world for children with genetic conditions.
Monies raised allows Jeans for Genes and their parent charity, CGD Society, to provide grants to charities like PTENUKI to support their work with children and families with genetic disorders.